Canonical Allele Identifier: CA382908634

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1055149
• ClinVar RCV Id: RCV001363770
• dbSNP Id: rs781982938
• gnomAD v2: 11-118900012-A-T
• gnomAD v4: 11-119029302-A-T
• MyVariant Identifiers: chr11:g.118900012A>T (hg19) ; chr11:g.119029302A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029302A>T , CM000673.2:g.119029302A>T	GRCh38
NC_000011.9:g.118900012A>T , CM000673.1:g.118900012A>T	GRCh37
NC_000011.8:g.118405222A>T	NCBI36
NG_013331.1:g.6605T>A , LRG_187:g.6605T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.297T>A
ENST00000697846.1:n.297T>A
ENST00000697847.1:n.297T>A
ENST00000697848.1:n.297T>A
ENST00000697849.1:n.541T>A
ENST00000697850.1:n.297T>A
ENST00000697851.1:n.541T>A
ENST00000638186.1:n.371T>A
ENST00000638360.1:n.305T>A
ENST00000638925.1:n.304T>A
ENST00000650539.1:n.473T>A
ENST00000330775.9:c.68T>A	ENSP00000476242.2:p.Leu23Gln
ENST00000357590.9:c.68T>A	ENSP00000476176.2:p.Leu23Gln
ENST00000524428.5:n.68T>A
ENST00000525039.5:n.491T>A
ENST00000525102.5:n.825T>A
ENST00000525372.5:n.68T>A
ENST00000525787.1:n.363T>A
ENST00000526626.6:n.263T>A
ENST00000527992.5:n.295T>A
ENST00000529510.5:n.86T>A
ENST00000530407.5:n.197+90T>A
ENST00000532085.1:n.1562T>A
ENST00000532888.6:n.263T>A
ENST00000534384.1:n.288T>A
ENST00000538950.5:c.-172+90T>A	ENSP00000475991.2:n.-172+90T>A
ENST00000545985.5:c.68T>A	ENSP00000475241.2:p.Leu23Gln
NM_001164277.1:c.68T>A , LRG_187t1:c.68T>A	NP_001157749.1:p.Leu23Gln
NM_001164278.1:c.68T>A	NP_001157750.1:p.Leu23Gln
NM_001164279.1:c.-172+90T>A	NP_001157751.1:n.-172+90T>A
NM_001164280.1:c.68T>A	NP_001157752.1:p.Leu23Gln
NM_001467.5:c.68T>A	NP_001458.1:p.Leu23Gln
NM_001164278.2:c.68T>A	NP_001157750.1:p.Leu23Gln
NM_001164279.2:c.-172+90T>A	NP_001157751.1:n.-172+90T>A
NM_001164280.2:c.68T>A	NP_001157752.1:p.Leu23Gln
NM_001467.6:c.68T>A	NP_001458.1:p.Leu23Gln
NM_001164277.2:c.68T>A MANE Select	NP_001157749.1:p.Leu23Gln